E55K (p.Glu55Lys) variant of TUBA1A (Tubulin alpha-1A chain)
E55K (p.Glu55Lys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- rs1565627735
- ClinGen CA384645019
- ClinVar RCV000767407
- Ensembl rs1565627735
- Pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 0.34
- SIFT 0.00
- MutPred 0.70
- ClinVar: Pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)